Open AccessAn Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son
Author(s) -
Ana Eduarda Campos,
Carla Rosenberg,
Ana Cristina Victorino Krepischi,
Marina de França,
V. L. G. S. Lopes,
Viviane Nakano,
Tânia Vertemati,
Marcos Cochak,
Michele Patricia Migliavacca,
Fernanda Milanezi,
Ana Rita Sousa,
Juliana Silva,
L. P. Vieira,
Priscilla Monfredini,
Ana Carolina Palumbo,
Jonathas Fernandes,
Eduardo Perrone
Publication year - 2021
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000516323
Subject(s) - karyotype , chromosomal translocation , proband , genetics , chromosomal rearrangement , gene duplication , biology , chromosome , derivative chromosome , genetic counseling , gene , mutation
Duplication of the distal 1q and 4p segments are both characterized by the presence of intellectual disability/neurodevelopmental delay and dysmorphisms. Here, we describe a male with a complex chromosome rearrangement (CCR) presenting with overlapping clinical findings between these 2 syndromes. In order to better characterize this CCR, classical karyotyping, FISH, and chromosomal microarray analysis were performed on material from the patient and his parents, which revealed an unbalanced karyotype with duplications at 1q41q43 and 4p15.2p14 in the proband. The rearrangements, which were derived from a maternal balanced karyotype, included an insertion of a segment from the long to the short arm of chromosome 1, a balanced translocation involving chromosomes 14 and 18, and an insertion of a segment from the short arm of chromosome 4 into the derived chromosome 14. This study aimed to better define the clinical history and prognosis of a patient with this rare category of chromosomal aberration. Our results suggest that the frequency of CCR in the general population may be underestimated; when balanced, they may not have a phenotypic effect. Moreover, they emphasize the need for cytogenetic techniques complementary to chromosomal microarray for proper genetic counseling.